Varaico: Literature-Extracted Genetic Variants

Gene:DOCK9
Variant:p.Q754H

DOCK9

101 papers

Pfam Domains

DOCK_C-D_Naa 46–156UCSCDedicator of cytokinesis C/D, N terminal
PHaa 175–281UCSCPH domain
DOCK-C2aa 636–827UCSCC2 domain in Dock180 and Zizimin proteins
TPR_DOCK9aa 853–1073UCSCDOCK9-like, TPR repeats
DHR-2_Lobe_Aaa 1589–1738UCSCDHR-2, Lobe A
DHR-2_Lobe_Baa 1805–1881UCSCDHR-2, Lobe B

Gene Aliases

HGNC Name

dedicator of cytokinesis 9

HGNC Alias Symbols

KIAA1058; ZIZ1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
4 papers
NM_015296.3
p.Q754H
c.2262A>T
NM_001366683.2
p.Q753H
c.2259A>T
Surrounding Variants
4 papers
NM_015296.3
p.Q754H
c.2262A>C
NM_001366683.2
p.Q753H
c.2259A>C
1 paper
NM_001366683.2
p.P718S
c.2152C>T
1 paper
NM_001366683.2
p.S757A
c.2269T>G
1 paper
NM_001366683.2
p.W758G
c.2272T>G
1 paper
NM_001366683.2
p.L762P
c.2285T>C
1 paper
NM_001130049.2
p.P761_L762delFs
c.2282_2285del4
1 paper
NM_001366683.2
p.L761_L762delFs
c.2282_2285del4
2 papers
NM_015296.3
p.R795_H796Splc
c.2385+8C>A
2 papers
NM_015296.3
p.R795_H796Splc
c.2385+23G>T
1 paper
NM_001366683.2
p.Y710C
c.2129A>G
1 paper
NM_001366683.2
p.R694I
c.2081G>T
1 paper
NM_001366683.2
p.R694G
c.2080A>G
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